Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

作者：Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah R. Stein, Adila Al Kindy, Bodo B. Beck, Nurcan Cengız, Khemchand N Moorani, Fatih Özaltın, Seema Hashmi, John A. Sayer, Detlef Böckenhauer, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Friedhelm Hildebrandt · 发表于：Kidney International · 年份：2015 · DOI：10.1038/ki.2015.317 · 被引用次数：106 · 研究领域：Genetic and Kidney Cyst Diseases、Renal and related cancers、Genomics and Rare Diseases